Please use this identifier to cite or link to this item:
https://doi.org/10.1371/journal.pgen.1003177
DC Field | Value | |
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dc.title | Sequencing of Pax6 Loci from the Elephant Shark Reveals a Family of Pax6 Genes in Vertebrate Genomes, Forged by Ancient Duplications and Divergences | |
dc.contributor.author | Ravi V. | |
dc.contributor.author | Bhatia S. | |
dc.contributor.author | Gautier P. | |
dc.contributor.author | Loosli F. | |
dc.contributor.author | Tay B.-H. | |
dc.contributor.author | Tay A. | |
dc.contributor.author | Murdoch E. | |
dc.contributor.author | Coutinho P. | |
dc.contributor.author | van Heyningen V. | |
dc.contributor.author | Brenner S. | |
dc.contributor.author | Venkatesh B. | |
dc.contributor.author | Kleinjan D.A. | |
dc.date.accessioned | 2019-11-06T09:28:05Z | |
dc.date.available | 2019-11-06T09:28:05Z | |
dc.date.issued | 2013 | |
dc.identifier.citation | Ravi V., Bhatia S., Gautier P., Loosli F., Tay B.-H., Tay A., Murdoch E., Coutinho P., van Heyningen V., Brenner S., Venkatesh B., Kleinjan D.A. (2013). Sequencing of Pax6 Loci from the Elephant Shark Reveals a Family of Pax6 Genes in Vertebrate Genomes, Forged by Ancient Duplications and Divergences. PLoS Genetics 9 (1) : e1003177. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1003177 | |
dc.identifier.issn | 15537390 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/161630 | |
dc.description.abstract | Pax6 is a developmental control gene essential for eye development throughout the animal kingdom. In addition, Pax6 plays key roles in other parts of the CNS, olfactory system, and pancreas. In mammals a single Pax6 gene encoding multiple isoforms delivers these pleiotropic functions. Here we provide evidence that the genomes of many other vertebrate species contain multiple Pax6 loci. We sequenced Pax6-containing BACs from the cartilaginous elephant shark (Callorhinchus milii) and found two distinct Pax6 loci. Pax6.1 is highly similar to mammalian Pax6, while Pax6.2 encodes a paired-less Pax6. Using synteny relationships, we identify homologs of this novel paired-less Pax6.2 gene in lizard and in frog, as well as in zebrafish and in other teleosts. In zebrafish two full-length Pax6 duplicates were known previously, originating from the fish-specific genome duplication (FSGD) and expressed in divergent patterns due to paralog-specific loss of cis-elements. We show that teleosts other than zebrafish also maintain duplicate full-length Pax6 loci, but differences in gene and regulatory domain structure suggest that these Pax6 paralogs originate from a more ancient duplication event and are hence renamed as Pax6.3. Sequence comparisons between mammalian and elephant shark Pax6.1 loci highlight the presence of short- and long-range conserved noncoding elements (CNEs). Functional analysis demonstrates the ancient role of long-range enhancers for Pax6 transcription. We show that the paired-less Pax6.2 ortholog in zebrafish is expressed specifically in the developing retina. Transgenic analysis of elephant shark and zebrafish Pax6.2 CNEs with homology to the mouse NRE/P? internal promoter revealed highly specific retinal expression. Finally, morpholino depletion of zebrafish Pax6.2 resulted in a "small eye" phenotype, supporting a role in retinal development. In summary, our study reveals that the pleiotropic functions of Pax6 in vertebrates are served by a divergent family of Pax6 genes, forged by ancient duplication events and by independent, lineage-specific gene losses. © 2013 Ravi et al. | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.source | Unpaywall 20191101 | |
dc.subject | transcription factor PAX6 | |
dc.subject | animal cell | |
dc.subject | animal tissue | |
dc.subject | article | |
dc.subject | Callorhinchus milii | |
dc.subject | controlled study | |
dc.subject | embryo | |
dc.subject | embryo development | |
dc.subject | gene | |
dc.subject | gene duplication | |
dc.subject | gene expression | |
dc.subject | gene locus | |
dc.subject | gene sequence | |
dc.subject | genetic analysis | |
dc.subject | genetic code | |
dc.subject | genetic conservation | |
dc.subject | genetic variability | |
dc.subject | microphthalmia | |
dc.subject | morphological trait | |
dc.subject | mouse | |
dc.subject | nonhuman | |
dc.subject | nucleotide sequence | |
dc.subject | Oryzias | |
dc.subject | Pax6 gene | |
dc.subject | phenotype | |
dc.subject | pleiotropy | |
dc.subject | retina development | |
dc.subject | sequence homology | |
dc.subject | shark | |
dc.subject | species comparison | |
dc.subject | teleost | |
dc.subject | transgenics | |
dc.subject | zebra fish | |
dc.subject | Animals | |
dc.subject | Evolution, Molecular | |
dc.subject | Eye Proteins | |
dc.subject | Gene Duplication | |
dc.subject | Gene Expression Regulation | |
dc.subject | Genetic Variation | |
dc.subject | Genome | |
dc.subject | Homeodomain Proteins | |
dc.subject | Mice | |
dc.subject | Paired Box Transcription Factors | |
dc.subject | Promoter Regions, Genetic | |
dc.subject | Repressor Proteins | |
dc.subject | Retina | |
dc.subject | Sequence Analysis, DNA | |
dc.subject | Sharks | |
dc.subject | Vertebrates | |
dc.subject | Zebrafish | |
dc.type | Article | |
dc.contributor.department | MEDICINE | |
dc.contributor.department | PAEDIATRICS | |
dc.description.doi | 10.1371/journal.pgen.1003177 | |
dc.description.sourcetitle | PLoS Genetics | |
dc.description.volume | 9 | |
dc.description.issue | 1 | |
dc.description.page | e1003177 | |
Appears in Collections: | Elements Staff Publications |
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